ClinVar

NM_000277.3(PAH):c.436C>T (p.His146Tyr)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102877467 (on Assembly GRCh38)
• Chr12: 103271245 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.436C>T (p.His146Tyr)

HGVS:

• NC_000012.12:g.102877467G>A
• NG_008690.2:g.85944C>T
• NM_000277.3:c.436C>TMANE SELECT
• NM_001354304.2:c.436C>T
• NP_000268.1:p.His146Tyr
• NP_001341233.1:p.His146Tyr
• NC_000012.11:g.103271245G>A
• NM_000277.1:c.436C>T
• P00439:p.His146Tyr

This HGVS expression did not pass validation

Protein change:

H146Y

Links:

UniProtKB: P00439#VAR_000896; dbSNP: rs199475599

NCBI 1000 Genomes Browser:

rs199475599

Molecular consequence:

• NM_000277.3:c.436C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354304.2:c.436C>T - missense variant - [Sequence Ontology: SO:0001583]